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Article

Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity.

The Journal of pediatrics - 1 Jun 2007

Dubern Béatrice, Bisbis Selma, Talbaoui Habiba, Le Beyec Johanne, Tounian Patrick, Lacorte Jean-Marc, Clément Karine

Abstract excerpt

OBJECTIVE: To describe the clinical and biological phenotype of a child who is severely obese and is homozygous for a new melanocortin-4 receptor (MC4R) gene mutation leading to a truncated receptor. STUDY DESIGN: Direct sequencing of the MC4R gene was performed in a child who was severely obese and his relatives. Phenotypic characterization included weight evolution, anthropometric parameters, and endocrine and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17517245
DOI: 10.1016/j.jpeds.2007.01.041

Genes

LEPR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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